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Public Health Division
Room 3-EN
St Andrews House
Regent Road
Edinburgh, EH1 3DG

Tel: +44 (0)8457 741 741 or +44 (0)131 556 8400

Fax: +44 (0)1397 795 001

E-mail: screening@gov.scot

Newborn Screening

There are around 58,000 births in Scotland each year. Screening is offered within the first few days of life so that early effective treatment can lead to better outcomes.

NHS Quality Improvement Scotland published Pregnancy & Newborn Screening Clinical Standards in October 2005.

In July 2008 the Scottish Government issued a letter to the Chief Executives at NHS Boards outlining a number of changes and developments to strengthen and extend the current pregnancy and newborn screening programmes.

Existing Newborn Screening Programmes

Phenylketonuria (PKU)
  • PKU is an inherited metabolical disorder which if left untreated will lead to significant learning disability (treatment being dietary restriction)
  • Affects around 1 in every 8,000 babies born in Scotland (6 or 7 babies a year)
  • Screening for PKU has been in existence since 1965.
Congenital Hypothyroidism (CHT)

CHT is an inherited metabolical disorder which if left untreated will lead to slower than normal growth and significant learning difficulties:

  • The condition is easily corrected by giving thyroxine by mouth
  • Affects around 1 in every 3,500 babies born in Scotland (15 or 16 babies a year)
  • Babies in Scotland have been screened for this condition since 1979
 Cystic Fibrosis (CF)
  • Cystic fibrosis affects around 1 in every 2,500 babies born in Scotland (around 20 babies a year)
  • Early treatment may help affected babies to maintain good nutrition and minimise chest infections leading to improved quality of life
  • The national programme commenced February 2003
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

MCADD is an inherited condition which can lead to serious illness, and in some cases even death, if the baby is not feeding regularly:

  • Affects 1 in 10,000 babies born in Scotland
 Sickle Cell Disorder (SCD)
  • Sickle Cell affects 1 in 2,500 babies born in the UK
  • It is an inhereted condition which can cause pain and damage to the baby's body. Sometimes this leads to serious infection and can be fatal.
  • Treatment includes antibiotics and immunisations to help prevent serious illness
  • Screening also identifies carriers of SCD
The Universal Newborn Hearing Screening (UNHS)

UNHS will detect around 60-65 cases a year of congenital hearing impairment. Screening at birth will not find any additional children with hearing impairment but allow earlier detection and treatment leading to better speech and benefits in well being, educational achievements and employment prospects.

  • Universal coverage was achieved at end of 2005